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STRs in panel
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Primary immunodeficiency

Gene: CXCR2

Red List (low evidence)

CXCR2 (C-X-C motif chemokine receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000180871
EnsemblGeneIds (GRCh37): ENSG00000180871
OMIM: 146928, Gene2Phenotype
CXCR2 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. Only a single family with variants in this gene and WHIM syndrome described to date. Rating Red until further evidence emerges.
Created: 27 Jul 2021, 11:57 a.m. | Last Modified: 27 Jul 2021, 11:57 a.m.
Panel Version: 2.451

Zornitza Stark (Australian Genomics)

Red List (low evidence)

2 sisters with neutropaenia, myelokathexis, and recurrent bacterial infections and homozygous frameshift variant in this gene.
Sources: Literature
Created: 9 Jul 2021, 5:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
WHIM syndrome 2 619407

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • WHIM syndrome 2, OMIM:619407
OMIM
146928
Clinvar variants
Variants in CXCR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jul 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CXCR2 were changed from WHIM syndrome 2 619407 to WHIM syndrome 2, OMIM:619407

27 Jul 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: cxcr2 has been classified as Red List (Low Evidence).

9 Jul 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: CXCR2 was added gene: CXCR2 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: CXCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CXCR2 were set to 24777453 Phenotypes for gene: CXCR2 were set to WHIM syndrome 2 619407 Review for gene: CXCR2 was set to RED